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Thrombus formation has been described for all types of commercially available transcatheter septal occlusion devices. Most reports have been single-institution case studies. Screening for hypercoagulable conditions prior to device placement and anticoagulation after device deployment has been variable. The objective of this study was to synthesize the current experience with device thrombosis; the Medline database from 1980 until 2004 was searched. Seventeen articles identified 54 unique patients with device thrombosis. Thrombus developed on eight different types of transcatheter devices. All commercially available devices had at least one reported case of thrombosis. Patient mean age was 44.2 +/- 9.8 years. Thrombosis was diagnosed at a mean of 5 months after device deployment. Prior to device placement, 12 patients had normal coagulation evaluations and 5 had coagulopathies. For 37 patients, no mention was made in the report of coagulation studies. Prior to device thrombosis, 26 patients received aspirin and clopidogrel, 15 patients received aspirin alone, 8 received warfarin, 2 heparin alone, 1 aspirin and warfarin. One patient with hemophilia A received no anticoagulation and in one case treatment prior to thrombosis was not reported. After device thrombosis, 35 patients were treated with warfarin with thrombus resolution, 2 had successful lytic therapy, 1 was treated with heparin alone. Sixteen patients had surgical explantation of the device. Septal occlusion device thrombosis is rare. All types of commercially available devices have been associated with thrombosis. All patients should have early (< or = 3 months) echocardiographic surveillance for device thrombosis. Thorough coagulation evaluation is imperative prior to transcatheter device placement., ((c) 2004 Wiley-Liss, Inc.)

Papillary thyroid carcinoma (PTC) is one extracolonic manifestation affecting about 1-2% of patients with familial adenomatous polyposis (FAP). Ninety-seven patients with FAP-associated PTC have previously been reported, including 6 pairs of siblings. During a European collaborative study, 15 patients with FAP-associated PTC were collected. All 15 patients were females. The mean age at thyroidectomy was 24.9 yr (range, 19-39 yr). In 13 subjects, APC germline mutations had been detected; they were at codons 140, 593, 778, 976, 993, 1061 (n = 5), 1105 (n = 1), and 1309 (n = 2), respectively. A review of the literature added 11 other patients with FAP-associated PTC and detection of germline APC mutations; they were at codons 313 (n = 2), 698 (n = 3), 848 (n = 2), 1209 (n = 2), 1061 (n = 1), and 1105 (n = 1), respectively. The latter led to formation of the same stop codon (TAA) at 1125-1126 as the mutation at codon 1061. Therefore, 21 of 24 mutations were in exon 15 in the genomic area usually associated with congenital hypertrophy of the retinal pigment epithelium (CHRPE), i.e. codons 463-1387. Typical CHRPE was found in 17 of 18 affected patients who had specific screening. Interestingly, 22 of the 24 patients had their mutation out of the mutation cluster region (codons 1286-1513), which is currently considered the hot spot mutation area, in particular for extracolonic manifestations of FAP. The difference in the incidence of germline mutations before and after codon 1220 between PTC and non-PTC FAP patients was statistically significant (P<0.05) for both patients and kindreds (P = 0.005 and P = 0.049, respectively). Even if most mutations were scattered throughout the entire 5'-portion of exon 15, 8 of 23 patients (6 with mutation at 1061 and 2 with mutation at 1105; i.e. more than one third) had the same truncated protein product. The awareness that patients with PTC usually have APC mutations that cluster in a well defined genomic area, in addition to giving a deeper insight into gene function, could facilitate both earlier diagnosis and better treatment. In particular, intensive screening for thyroid nodules after age 15 yr is recommended when a single patient or an entire kindred have CHRPE and/or mutations in the 5'-portion of exon 15.